KEGG   Homo sapiens (human): 8557
Entry
8557              CDS       T01001                                 
Symbol
TCAP, CMD1N, CMH25, LGMD2G, LGMDR7, T-cap, TELE, telethonin
Name
(RefSeq) titin-cap
  KO
K19879  telethonin
Organism
hsa  Homo sapiens (human)
Pathway
hsa04820  Cytoskeleton in muscle cells
Disease
H00292  Hypertrophic cardiomyopathy
H00294  Dilated cardiomyopathy
H00593  Limb-girdle muscular dystrophy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09142 Cell motility
   04820 Cytoskeleton in muscle cells
    8557 (TCAP)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    8557 (TCAP)
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    8557 (TCAP)
Membrane trafficking [BR:hsa04131]
 Others
  Actin-binding proteins
   Others
    8557 (TCAP)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Actin filaments / Microfilaments
   Actin-binding proteins
    Others
     8557 (TCAP)
SSDB
Motif
Pfam: Telethonin
Other DBs
NCBI-GeneID: 8557
NCBI-ProteinID: NP_003664
OMIM: 604488
HGNC: 11610
Ensembl: ENSG00000173991
UniProt: O15273 A2TDC0
Structure
Position
17:39665349..39666554
AA seq 167 aa
MATSELSCEVSEENCERREAFWAEWKDLTLSTRPEEGCSLHEEDTQRHETYHQQGQCQVL
VQRSPWLMMRMGILGRGLQEYQLPYQRVLPLPIFTPAKMGATKEEREDTPIQLQELLALE
TALGGQCVDRQEVAEITKQLPPVVPVSKPGALRRSLSRSMSQEAQRG
NT seq 504 nt   +upstreamnt  +downstreamnt
atggctacctcagagctgagctgcgaggtgtcggaggagaactgtgagcgccgggaggcc
ttctgggcagaatggaaggatctgacactgtccacacggcccgaggagggctgctccctg
catgaggaggacacccagagacatgagacctaccaccagcaggggcagtgccaggtgctg
gtgcagcgctcgccctggctgatgatgcggatgggcatcctcggccgtgggctgcaggag
taccagctgccctaccagcgggtactgccgctgcccatcttcacccctgccaagatgggc
gccaccaaggaggagcgtgaggacacccccatccagcttcaggagctgctggcgctggag
acagccctgggtggccagtgtgtggaccgccaggaggtggctgagatcacaaagcagctg
ccccctgtggtgcctgtcagcaagcccggtgcacttcgtcgctccctgtcccgctccatg
tcccaggaagcacagagaggctga

  All links  
Ontology (3)   
   KEGG BRITE (3)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (6)   
   KEGG DISEASE (3)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (9)   
   KEGG ORTHOLOGY (1)   
   RefGene (1)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (4)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (17)   
   RefSeq(nuc) (1)   
   GenBank (8)   
   EMBL (8)   
3D Structure (2)   
   PDB (2)   
Protein domain (1)   
   Pfam (1)   
All databases (44)   

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